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Background  Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta ( ESRRB ) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.    Methods  We tested for association between the  ESRRB  locus and dental caries in 1,731 subjects, if  ESRRB  was expressed in whole saliva, if  ESRRB  was associated with the microhardness of the dental enamel, and if  ESRRB  was expressed during enamel development of mice.    Results  Two families with recessive  ESRRB  mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of  ESRRB  in whole saliva samples showed differences depending on sex and dental caries experience.    Conclusions  The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated  ESRRB  genetic variants are correlated with efficacy.

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay